Non-toxic goitre is endemic in Greece (Malamos Koutras, Kostamis, Kralios, Rigopoulos, and Zerefos, I966a), and detailed biochemical studies have implicated iodine deficiency as the main causative factor (Malamos, Miras, Koutras, Kostamis, Binopoulos, Mantzos, Levis, Rigopoulos, Zerefos, and Tassopoulos, I966b). However, in the endemic regions studied, both goitrous and non-goitrous persons are...

INDIAN PEDIATRICS 454 VOLUME 45__JUNE 17, 2008 Iodine deficiency causes severe hormone-induced physiological damage to fetus and newborn resulting in cretinism, stunting, deaf-mutism, malformed limbs, spastic motor disorders, poor vision and goiter (swelling of the thyroid gland on the neck), as well as milder forms of mental and physical impairment. There was developmental lag in children of g...

It has been suggested that a thyroglobulin (Tg)-R19K missense mutation may be a newly identified cause of human congenital goiter, which is surprising for this seemingly conservative substitution. Here, we have examined the intracellular fate of recombinant mutant Tg expressed in COS-7 cells. Incorporation of the R19K mutation largely blocked Tg secretion, and this mutant was approximately 90% ...

In an area of severe endemic goiter in Central Java, Indonesia, clinical overt or mild hypothyroidism appeared to be present in 7 out of 20 cretins and also in 12 out of 94 non-cretinous subjects, all 5-20 years of age, living in the village of Sengi. Hypothyroidism was not found in a control group of 70 subjects of the same age living in Londjong just outside the edemia. In hypothyroid subject...

INTRODUCTION The organogenesis of the thyroid gland in humans is often disturbed, leading to a variety of morphological variations of the gland, such as hypoplasia, ectopy, hemiagenesis and agenesis. As the morphological variations are usually diagnosed incidentally during examination for other thyroid gland diseases, the true incidence is therefore uncertain. METHODS This study was structure...

the eighteenth century. Because of Neuburger's brief, he gives only a short but effective account of electrophysiology. Dr Brazier, although concerned with all of neurophysiology, has selected the reverse arrangement: little reference to brain localization with no account of Willis's important contribution, and great emphasis laid on nerve conduction. Even in Part I, the latter topic receives c...

The Medical Journal of Australia ISSN: 0025729X 4/18 December 2006 185 11/12 677-677 ©The Medical Journal of Australia 2006 www.mja.com.au Christmas Offerings in Nilgiri rhesus monkeys is the result of low iodine mountain environment. Further investigation is necessa the exact reason for the goitre. A literature search failed to identify any studies of end humans living in the Nilgiri region, a...

OBJECTIVE To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test...

Thyroid peroxidase (TPO) deficiency, caused by biallelic TPO mutations, is a well-established genetic form of congenital hypothyroidism (CH). More than 100 patients have been published, and the patients have been diagnosed mostly in the frame of newborn screening (NBS) programs. Correlation between clinical phenotypes and TPO activity remains unclear. Here, we report clinical and molecular find...

Recently we have developed an assay method for peroxidase-catalyzed coupling of iodotyronine residues of thyroglobulin, which is applicable to human diseased thyroid tissues. In the present study, the assay method as well as usual peroxidase assay methods were applied to thyroids of three patients (No. 1: familial goiter with impaired thyroglobulin synthesis, No. 2: mild chronic thyroiditis, No...